Linked Data
ClinVar Variation Id:
722311
ClinVar RCV Id:
RCV000895929
dbSNP Id:
rs746157399
ExAC:
1:116206383 C / T
gnomAD v2:
1-116206383-C-T
gnomAD v4:
1-115663762-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115663762C>T , CM000663.2:g.115663762C>T | GRCh38 |
| NC_000001.10:g.116206383C>T , CM000663.1:g.116206383C>T | GRCh37 |
| NC_000001.9:g.116007906C>T | NCBI36 |
| NG_016548.1:g.26810C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355485.7:c.306C>T MANE Select | ENSP00000347672.2:p.Ser102= | |
| ENST00000310260.7:c.306C>T | ENSP00000310800.3:p.Ser102= | |
| ENST00000355485.6:c.306C>T | ENSP00000347672.2:p.Ser102= | |
| ENST00000369509.1:c.306C>T | ENSP00000358522.1:p.Ser102= | |
| ENST00000369510.8:c.300C>T | ENSP00000358523.3:p.Ser100= | |
| NM_001172411.1:c.300C>T | NP_001165882.1:p.Ser100= | |
| NM_001172412.1:c.306C>T | NP_001165883.1:p.Ser102= | |
| NM_138959.2:c.306C>T | NP_620409.1:p.Ser102= | |
| NM_138959.3:c.306C>T MANE Select | NP_620409.1:p.Ser102= | |
| NM_001172411.2:c.300C>T | NP_001165882.1:p.Ser100= | |
| NM_001172412.2:c.306C>T | NP_001165883.1:p.Ser102= |